autopsy and skeletal surveys raise suspicion of hypophosphatasia 2 Postnatal exam showed skin sloughing Not applicable De novo rare missense mutation in the BTB c.86A > G domain of the KCTD1 gene, which is p.Asn29Ser; associated with scalp − ear − nipple syndrome likely pathogenic 3 Seve...
Having demonstrated the compatibility of inDrop V2 library features with standard Illumina libraries in NGS, we next sought to re-engineer the inDrop library structure for higher-throughput, ExAmp chemistry-based sequencers, such as the NovaSeq6000. Specifically, we sought to incorporate dual-indexin...
For exam- finding and detection of splice variants among other ple, (Toth et al., 2007) focused on candidate genes for applications (Simon et al., 2009). food provisioning and foraging behaviour in their study Digital transcriptomic approaches typically do not of a primitively eusocial wasp (...
AIMS: Meticillin-resistant Staphylococcus aureus (MRSA) strains isolated in Tawam Hospital, a tertiary care hospital in the United Arab Emirates, were exam... Agnes Sonnevend,lain Blair,M Alkaabi,... - 《Journal of Clinical Pathology》 被引量: 46发表: 2012年 Molecular characteristics and virul...
At enrolment (within one week of birth), a blood sample was collected. A full clinical exam was performed by a qualified veterinarian. Animals were also assessed using the Wisconsin scoring system46and a composite health scoring system. This scoring system devised by the researchers and is descri...
Although a negative CW stain and microscopic examina- tion has excellent specificity and NPV, it has poor sensi- tivity and PPV for fungal infection. Microscopy negative BALs and other clinical specimens were negative by standard methods and FBR-PCR/S. Clinical specimens positive by microscopy (n...
Validation cohort Patients were recruited from an ongoing cohort examin- ing the relationship between DNA variations and CAD. A total of 80 patients had acceptable RNAseq data for fur- ther analysis. This suburban Virginia cohort had some- what different demographics, with mainly the minority ...
(2015). Taxonomic re-exam- ination of the toxic armored dinoflagellate Pyrodinium bahamense Plate 1906: Can morphology or LSU sequen- cing separate P. bahamense var. compressum from var. bahamense? Harmful Algae, 41: 1-24.Mertens, K.N.; Wolny, J.; Carbonell-Moore, C.; Bogus, K.;...
For exam- ple, of the ~100 patients successfully diagnosed in the National Institutes of Health Undiagnosed Diseases Program (20–25% of the total enrolled), 15 cases (~3.5% of total enrolled) corre- spond to novel gene associations for previously described dis- eases, and only 2 cases (<...
Electromyogram exam showed neurogenic damage at the first dorsal interosseous muscle and left tibial anterior muscle. Echocardiography exam showed left ventricular hypertrophy, diffuse thickening of the left ventricular wall, and decreased diastolic function of the left ventricle. A biopsy of left sural ...